ERIC BOERWINKLE to Heterozygote
This is a "connection" page, showing publications ERIC BOERWINKLE has written about Heterozygote.
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0.895
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Rare Coding Variants Associated With Electrocardiographic Intervals Identify Monogenic Arrhythmia Susceptibility Genes: A Multi-Ancestry Analysis. Circ Genom Precis Med. 2021 08; 14(4):e003300.
Score: 0.143
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Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients With Severe Hypercholesterolemia. J Am Coll Cardiol. 2016 06 07; 67(22):2578-89.
Score: 0.099
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Coronary heart disease and genetic variants with low phospholipase A2 activity. N Engl J Med. 2015 Jan 15; 372(3):295-6.
Score: 0.091
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Cardiovascular Risk Factors and Genetic Risk in Transthyretin V142I Carriers. JACC Heart Fail. 2025 01; 13(1):91-101.
Score: 0.045
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Monogenic and Polygenic Contributions to QTc Prolongation in the Population. Circulation. 2022 05 17; 145(20):1524-1533.
Score: 0.037
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Common variants in Alzheimer's disease and risk stratification by polygenic risk scores. Nat Commun. 2021 06 07; 12(1):3417.
Score: 0.035
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Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program. Nature. 2021 Feb; 590(7845):290-299.
Score: 0.035
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Association of variants in HTRA1 and NOTCH3 with MRI-defined extremes of cerebral small vessel disease in older subjects. Brain. 2019 04 01; 142(4):1009-1023.
Score: 0.030
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Association Between Titin Loss-of-Function Variants and Early-Onset Atrial Fibrillation. JAMA. 2018 12 11; 320(22):2354-2364.
Score: 0.030
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Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy. Am J Hum Genet. 2016 Mar 03; 98(3):562-570.
Score: 0.025
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POGZ truncating alleles cause syndromic intellectual disability. Genome Med. 2016 Jan 06; 8(1):3.
Score: 0.024
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Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes. J Clin Invest. 2015 Feb; 125(2):636-51.
Score: 0.023
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The amyloidogenic V122I transthyretin variant in elderly black Americans. N Engl J Med. 2015 Jan 01; 372(1):21-9.
Score: 0.023
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Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction. Nature. 2015 Feb 05; 518(7537):102-6.
Score: 0.023
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Loss-of-function mutations in APOC3, triglycerides, and coronary disease. N Engl J Med. 2014 Jul 03; 371(1):22-31.
Score: 0.022
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Microcephaly, epilepsy, and neonatal diabetes due to compound heterozygous mutations in IER3IP1: insights into the natural history of a rare disorder. Pediatr Diabetes. 2014 May; 15(3):252-6.
Score: 0.021
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VNTR allele frequency distributions under the stepwise mutation model: a computer simulation approach. Genetics. 1993 Jul; 134(3):983-93.
Score: 0.020
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Whole-genome sequence-based analysis of high-density lipoprotein cholesterol. Nat Genet. 2013 Aug; 45(8):899-901.
Score: 0.020
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Length and sequence variation in the apolipoprotein B intron 20 Alu repeat. Genomics. 1992 Oct; 14(2):449-54.
Score: 0.019
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Orthostatic hypotension and novel blood pressure-associated gene variants: Genetics of Postural Hemodynamics (GPH) Consortium. Eur Heart J. 2012 Sep; 33(18):2331-41.
Score: 0.019
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Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders. Hum Mol Genet. 2011 Sep 01; 20(17):3366-75.
Score: 0.018
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Association of the platelet GPIIb/IIIa polymorphism with atherosclerotic plaque morphology: the Atherosclerosis Risk in Communities (ARIC) Study. Atherosclerosis. 2011 May; 216(1):151-6.
Score: 0.017
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Population genetics of hypervariable loci: analysis of PCR based VNTR polymorphism within a population. EXS. 1991; 58:127-43.
Score: 0.017
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Dissociation between APOC3 variants, hepatic triglyceride content and insulin resistance. Hepatology. 2011 Feb; 53(2):467-74.
Score: 0.017
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Combined effects of endothelial nitric oxide synthase gene polymorphism (G894T) and insulin resistance status on blood pressure and familial risk of hypertension in young adults: the Bogalusa Heart Study. Am J Hypertens. 2001 Oct; 14(10):1046-52.
Score: 0.009
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The Ser(447)-Stop polymorphism of lipoprotein lipase is associated with variation in longitudinal serum high-density lipoprotein-cholesterol profiles: the Bogalusa Heart Study. Metabolism. 2001 Aug; 50(8):894-904.
Score: 0.009
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Apolipoprotein E variation at the sequence haplotype level: implications for the origin and maintenance of a major human polymorphism. Am J Hum Genet. 2000 Oct; 67(4):881-900.
Score: 0.008
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Analysis of lipoprotein lipase haplotypes reveals associations not apparent from analysis of the constituent loci. Ann Hum Genet. 1999 Nov; 63(Pt 6):499-510.
Score: 0.008
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Haplotype structure and population genetic inferences from nucleotide-sequence variation in human lipoprotein lipase. Am J Hum Genet. 1998 Aug; 63(2):595-612.
Score: 0.007